Canonical Allele Identifier: CA1528476322

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13870808_13870812delinsCCCTT , CM000667.2:g.13870808_13870812delinsCCCTT	GRCh38
NC_000005.9:g.13870917_13870921delinsCCCTT , CM000667.1:g.13870917_13870921delinsCCCTT	GRCh37
NC_000005.8:g.13923917_13923921delinsCCCTT	NCBI36
NG_013081.1:g.78669_78673delinsAAGGG
NG_013081.2:g.78669_78673delinsAAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3789_3793delinsAAGGG MANE Select	ENSP00000265104.4:p.Ile1263=
ENST00000681290.1:c.3744_3748delinsAAGGG	ENSP00000505288.1:p.Ile1248=
ENST00000265104.4:c.3789_3793delinsAAGGG	ENSP00000265104.4:p.Ile1263=
NM_001369.2:c.3789_3793delinsAAGGG	NP_001360.1:p.Ile1263=
XM_005248262.2:c.3744_3748delinsAAGGG	XP_005248319.1:p.Ile1248=
XM_011513990.1:c.3789_3793delinsAAGGG	XP_011512292.1:p.Ile1263=
XR_925598.1:n.3996_4000delinsAAGGG
XM_005248262.3:c.3897_3901delinsAAGGG	XP_005248319.2:p.Ile1299=
XM_017009177.1:c.3897_3901delinsAAGGG	XP_016864666.1:p.Ile1299=
XM_017009178.1:c.2802_2806delinsAAGGG	XP_016864667.1:p.Ile934=
XM_017009179.2:c.2802_2806delinsAAGGG	XP_016864668.1:p.Ile934=
XM_017009180.1:c.3897_3901delinsAAGGG	XP_016864669.1:p.Ile1299=
XM_017009181.1:c.3897_3901delinsAAGGG	XP_016864670.1:p.Ile1299=
XM_017009182.1:c.3897_3901delinsAAGGG	XP_016864671.1:p.Ile1299=
XM_017009183.1:c.3897_3901delinsAAGGG	XP_016864672.1:p.Ile1299=
XM_017009184.1:c.3897_3901delinsAAGGG	XP_016864673.1:p.Ile1299=
XM_017009187.1:c.3897_3901delinsAAGGG	XP_016864676.1:p.Ile1299=
XM_024454388.1:c.2802_2806delinsAAGGG	XP_024310156.1:p.Ile934=
XM_024454389.1:c.2391_2395delinsAAGGG	XP_024310157.1:p.Ile797=
XR_001742034.1:n.3914_3918delinsAAGGG
XR_001742035.1:n.3914_3918delinsAAGGG
NM_001369.3:c.3789_3793delinsAAGGG MANE Select	NP_001360.1:p.Ile1263=